Mutations in SLC34A2 Cause Pulmonary Alveolar Microlithiasis and Are Possibly Associated with Testicular Microlithiasis

Mutations in SLC34A2 Cause Pulmonary Alveolar Microlithiasis and Are Possibly Associated with Testicular Microlithiasis PowerPoint PPT Presentation


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Pulmonary alveolar microlithiasis (PAM) is a rare, most probably autosomal recessive condition, characterised by concretions of calcium phosphate deposits in the pulmonary alveoli. Friedrich was the first to observe and describe the disease during an otopsy, in 1856. Harbitz reported the first case

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Mutations in SLC34A2 Cause Pulmonary Alveolar Microlithiasis and Are Possibly Associated with Testicular Microlithiasis

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